Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling | Zendy

Riikka E. Mäkitie | Zendy; Matthias Hackl | Zendy; Riitta Niinimäki | Zendy; Sakari Kakko | Zendy; Johannes Grillari | Zendy; Outi Mäkitie | Zendy

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Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling

Author(s) -

Riikka E. Mäkitie,

Matthias Hackl,

Riitta Niinimäki,

Sakari Kakko,

Johannes Grillari,

Outi Mäkitie

Publication year - 2018

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2017-02585

Subject(s) - wnt signaling pathway , missense mutation , microrna , mutation , osteoporosis , lrp5 , medicine , biology , cancer research , endocrinology , bioinformatics , signal transduction , genetics , gene

WNT signaling is fundamental to bone health, and its aberrant activation leads to skeletal pathologies. The heterozygous missense mutation p.C218G in WNT1, a key WNT pathway ligand, leads to severe early-onset and progressive osteoporosis with multiple peripheral and spinal fractures. Despite the severe skeletal manifestations, conventional bone turnover markers are normal in mutation-positive patients.

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